TABLE 1.
Disorders caused by germline and somatic mutations in minor spliceosome-specific snRNAs and proteins
| Gene | Disorder | Abbreviation | Phenotype | |
|---|---|---|---|---|
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism type I | MOPD I | Growth restriction, microcephaly, skeletal dysplasia (SEMD/SED/MED), developmental delay, intellectual disability | Spondyloepiphyseal dysplasia (SEMD), brain anomalies, premature death |
| Roifman syndrome | RS | Spondyloepiphyseal dysplasia (SED), immunodeficiency, retinal dystrophy | ||
| Lowry-Wood syndrome | LWS | Multiple epiphyseal dysplasia (MED) | ||
| Joubert syndrome-like | JBTS-like | Molar tooth sign, hypotonia, nystagmus | ||
| RNPC3 | Congenital hypopituitarism | CH | Growth hormone deficiency, growth restriction, pituitary hypoplasia, prolactin deficiency, hypothyroidism, ovarian insufficiency, mild microcephaly | |
| CENATAC | Mosaic variegated aneuploidy | MVA | Mosaic aneuploidies, microcephaly, developmental delay, maculopathy | |
| RNU12 | Early-onset cerebellar ataxia | EOCA | Hypotonia, ataxia, delayed motor development, learning and speech difficulties, cerebellar hypoplasia and degeneration, seizures | |
| CDAGS syndrome | CDAGS | Craniosynostosis, delayed fontanelle closure, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, skin manifestations | ||
| ZRSR2 | Orofaciodigital syndrome | OFD | Orofacial anomalies, digital anomalies, multiple pituitary hormone deficiencies, brain anomalies, developmental delay | |
| Myelodysplastic syndrome and other hematological malignancies | MDS | Somatic mutations: aberrant differentiation of myeloid precursors in the bone marrow, peripheral blood cytopenias, progress to acute myeloid leukemia | ||
| SCNM1 | Orofaciodigital syndrome | OFD | Orofacial anomalies, digital anomalies, limb shortening, delayed speech | |
| CRIPT | Rothmund-Thomson syndrome | RTS | Growth restriction, poikiloderma, skeletal anomalies, microcephaly, facial dysmorphism, developmental delay | |
